Canonical Allele Identifier: CA343243241
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160099982A>T (hg19) chr1:g.160130192A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130192A>T , CM000663.2:g.160130192A>T GRCh38
NC_000001.10:g.160099982A>T , CM000663.1:g.160099982A>T GRCh37
NC_000001.9:g.158366606A>T NCBI36
NG_008014.1:g.19435A>T , LRG_6:g.19435A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1552A>T MANE Select ENSP00000354490.3:p.Ile518Phe
ENST00000361216.7:c.1552A>T ENSP00000354490.3:p.Ile518Phe
ENST00000392233.7:c.1552A>T ENSP00000376066.3:p.Ile518Phe
ENST00000447527.1:c.684A>T
ENST00000472488.5:n.1655A>T
NM_000702.3:c.1552A>T NP_000693.1:p.Ile518Phe
NM_000702.4:c.1552A>T MANE Select NP_000693.1:p.Ile518Phe
Search 100 bp 5'
Search 100 bp 3'